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Care for differences of sexual differentiation

The GUIDE (Gynecology/Genetics, Urology, Integrated, Developmental and Endocrine) clinic cares for children and teens with a range of conditions commonly associated with Differences of Sexual Differentiation (DSD). We provide individualized care by addressing the medical, social, and emotional needs of every person we serve.

GUIDE Clinic Team

Our team specializes in caring for young people with Differences of Sexual Differentiation (DSD). Young people receive dedicated care from a group of experienced specialists working together to provide the best possible care.

Our team includes endocrinologists, geneticists, psychologists, social workers, and urologists. We are committed to research that leads to improving treatment methods for all people with DSD.

What to expect at your appointment

How long will my appointment be?

Expect to spend approximately 2-3 hours at the clinic. It varies from person to person.

Why will we be seeing many doctors in one day?

Because of the complex nature of DSDs, your child will benefit most from a team approach to care. Rather than multiple appointments in different locations, at the GUIDE clinic, you can see all the specialists you need in one place.

It takes many disciplines to come up with a plan of care specific to your child. On a day to day basis, these doctors do not work in the same department. In order to get them all together on the same day, we have one GUIDE clinic appointment for your family.

Will labs need to be done on the day of my appointment?

Yes, lab work may need to be done. This is also on an individual basis and dependent on the plan of care.

Conditions

Ambiguous genitalia

This is an older term for differences of sexual differentiation (DSDs) in which the external genitals are not what is typically expected for a boy or girl.

Androgen insensitivity

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of the adrenal glands which are located above the kidneys.
The most common form of CAH is called 21 hydroxylase deficiency. People with this disorder do not make enough of the stress hormone called cortisol. Some people also have problems with dehydration. Girls with this disorder make too much of the male hormone called testosterone. This can make girls' genitals look masculine. Males with CAH do not have any genital problems.
This disorder can be life-threatening. Treatment involves life-long replacement of the missing adrenal hormones.
Girls who are assigned the female gender have fewer problems with identifying themselves as a girl later in life. Fertility is nearly normal in both boys and girls.
Surgery is sometimes required to separate the vagina from the urethra.

Intersex disorders

This is an older term for differences of sexual differentiation (DSDs) in which the internal sex organs are not what is typically expected for a boy or girl.

Mixed gonadal dysgenesis

Mixed-gonadal dysgenesis (MGD) is a rare condition in which there is usually a typical gonad (testis or ovary) on one side and an abnormal gonad or "streak" on the other side. The condition has been associated with a variety of chromosomal combinations where some cells may have normal numbers, where others may have too few or too many of the "sex" chromosomes. The physical appearance of the genitalia is variable ranging from typical male to typical female, or sometimes somewhere in between. Gender assignment with MGD is individualized and multiple factors are taken into consideration. Treatment often includes early surgery to remove streak gonads to prevent tumors, surgical reconstruction, and sometimes later hormone replacement therapy.

Vaginal agenesis/Mayer-von-Rokitansky-Kuster-Hauser's syndrome (MRKH)

This syndrome is a condition where the internal female sexual organs do not develop normally, but it can also be associated with abnormal development of other organs in the body.

Cloacal anomalies

These are a group of disorders where the bladder, bowel and sexual organs do not separate normally. These are quite variable, but often require surgical reconstruction.

Ovotesticular DSD

Ovotesticular DSD is a rare condition where there are both ovaries and testes present, sometimes even combined in the same gonad. Previously, the syndrome was referred to as true hermaphroditism. The condition is also associated with a variety of chromosomal combinations, including normal male (46-XY), normal female (46-XX), or a mixture of the two. The physical appearance of the genitalia can be anywhere on the spectrum from normal male to normal female, or somewhere in between.
Gender assignment with Ovotesticular DSD is very individualized. There is potential for fertility, but gonads that do not match the chosen gender can cause hormonal problems and possibly carry a risk of tumor development. Biopsy of the gonads is usually necessary for diagnosis. Hormonal replacement therapy may be required at puberty, and surgical reconstruction is generally undertaken at some point.